A2S (p.Ala2Ser) variant of PRKAA2 (P54646)
A2S (p.Ala2Ser) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 1-56645391-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.16
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available